A sporadic case of von Hippel-Lindau disease with a secondary maculopathy as the presenting sign

Abstract

A 36-year-old male presented with a drop in visual acuity in his left eye to 0.1. Ophthalmoscopy of the affected eye revealed dense, macular, lipid exudates at the posterior pole (Fig. 1) and a single peripheral capillary retinal haemangioma with only moderately enlarged draining vessels (Fig. 2). Retinal findings in the right eye were unremarkable. As the patient had reported headache, magnetic resonance tomography (MRT) of the brain was performed. This showed a single infratentorial haemangioblastoma (Fig. 3) with a solid (arrow) and cystic (arrow) component, thus allowing for a clinical diagnosis of von Hippel-Lindau disease (VHL) (Neumann 1987). However, the subject's family history was negative for this autosomal-dominant, multi-tumour syndrome. Molecular genetic analysis of the VHL gene (3p25-26) by SSCP (Latif et al. 1993) detected a mutation (477 C/G) in the patient's DNA (Fig. 4, lane 2), but not in his mother's or sister's DNA (Fig. 4, lanes 3 and 4; wild-type DNA: lane 1). Although a positive family history is present in the majority of VHL cases, the disease can also present sporadically due to a de novo mutation (Richards et al. 1995; Kreusel et al. 2000). Ruthenium-106 brachytherapy of the haemangioma (Kreusel et al. 1998) induced complete regression to a choroido-retinal scar (Fig. 5). During 5 years of follow-up according to current screening recommendations (Maher et al. 1990), no further haemangioma or other new VHL lesions were detected in the patient.